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ABCA2, ABCD1, ACSL4, ACTB, ACTG1, ACTL6B, ADAM22, ADARB1, ADAT3, ADNP, ADSL, AFF2, AFF4, AHDC1, AHI1, ALDH5A1, ALG13, ALKBH8, ANK3, ANKRD11, AP1S2, AP2M1, AP3B2, ARHGEF9, ARID1A, ARID1B, ARID2, ARV1, ARX, ASH1L, ASXL3, ATP6AP2, ATP6V1A, ATP7A, ATR, ATRX, AUTS2, BCKDK, BCL11A, BCOR, BICRA (GLTSCR1), BRAF, BRAT1, BRWD3, C12ORF4, CACNA1A, CACNA1B, CACNA1C, CACNA1E, CACNG2, CAD, CAMK2A, CAMK2B, CAMK2G, CASK, CC2D1A, CCDC88C, CDH15, CDK19, CDKL5, CENPJ, CEP152, CEP63, CERT1 (COL4A3BP), CHAMP1, CHD2, CHD3, CHD7, CHD8, CIC, CLCN4, CLIC2, CLTC, CNKSR2, CNOT3, CNPY3, CNTNAP2, CPLX1, CRADD, CRBN, CREBBP, CSNK2A1, CTCF, CTNNB1, CUL3, CUL4B, CUX2, CYFIP2, DCX, DDX3X, DEAF1, DENND5A, DHCR7, DHPS, DLG3, DLG4, DLL1, DMXL2, DNM1, DOCK7, DPF2, DPP6, DYNC1H1, DYRK1A, EDC3, EEF1A2, EHMT1, EIF2S3, EIF3F, ELP2, EP300, EPB41L1, EZH2, FAM50A, FBXO11, FBXO31, FGD1, FGF12, FGF13, FLNA, FMN2, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, FRMPD4, FRRS1L, FTSJ1, GABBR2, GABRA1, GABRA2, GABRA5, GABRB1, GABRB2, GABRB3, GABRG2, GAD1, GAMT, GATAD2B, GDI1, GK, GLS, GNAO1, GNB1, GOT2, GPAA1, GPC3, GRIA2, GRIA3, GRIA4, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GUF1, HCCS, HCFC1, HCN1, HDAC8, HECW2, HERC2, HIVEP2, HNMT, HNRNPH2, HNRNPU, HOXA1, HPRT1, HRAS, HS6ST2, HSD17B10, HUWE1, IDS, IGBP1, IL1RAPL1, IMPA1, IQSEC2, IRF2BPL, ITPA, KANSL1, KAT6B, KCNA2, KCNB1, KCNQ2, KCNQ5, KCNT1, KCNT2, KDM3B, KDM4B, KDM5B, KDM5C, KDM6A, KDM6B, KIF1A, KIF4A, KLHL15, KMT2A, KMT2D, KMT2E, KMT5B (SUV420H1), KPTN, L1CAM, LAMC3, LAMP2, LAS1L, LINGO1, LINS1 (LINS), LMAN2L, LNPK (KIAA1715), LZTR1, MAGEL2, MAGT1, MAN1B1, MAOA, MBD5, MBOAT7, MBTPS2, MDH1, MDH2, MECP2, MED12, MED13, MED13L, MED23, MEF2C, MEIS2, METTL23, METTL5, MID1, MID2, MSL3, MTHFS, MTRFR (C12ORF65), MYT1L, NAA15, NACC1, NDP, NDST1, NDUFA1, NECAP1, NEUROD2, NEXMIF (KIAA2022), NFIB, NFIX, NHS, NIPBL, NKAP, NLGN3, NLGN4X, NONO, NRXN1, NSD1, NSDHL, NSUN2, NTRK2, NUS1, OCRL, OFD1, OGT, OPHN1, OTC, OTUD6B, PACS1, PACS2, PAFAH1B1, PAH, PAK1, PAK3, PANK2, PARS2, PCDH19, PDHA1, PGAP1, PGK1, PHACTR1, PHF21A, PHF6, PHF8, PHIP, PIGA, PIGB, PIGC, PIGG, PIGK, PIGP, PIGQ, PIGS, PIGT, PIGU, PIGV, PLCB1, PLP1, PNKP, POGZ, POLA1, POMGNT1, PORCN, PPP2R1A, PPP2R5D, PPP3CA, PQBP1, PRPS1, PRSS12, PSMD12, PTCHD1, PTEN, PTPN11, PTPN23, PURA, RAB39B, RAC1, RAD21, RAI1, RBBP8, RBMX, RELN, RERE, RHOBTB2, RLIM, RNF13, ROR2, RORA, RPL10, RPS6KA3, RSRC1, RUSC2, SARS1 (SARS), SATB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SET, SETBP1, SETD1A, SETD2, SETD5, SHANK2, SHANK3, SHROOM4, SIK1, SIN3A, SKI, SLC12A5, SLC13A5, SLC16A2, SLC1A2, SLC25A12, SLC25A22, SLC2A1, SLC35A2, SLC6A1, SLC6A17, SLC6A8, SLC9A6, SLC9A7, SLC9A9, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCD1, SMARCE1, SMC1A, SMC3, SMS, SON, SOX11, SOX3, SOX4, SOX5, SPTAN1, SRCAP, SRPX2, ST3GAL3, STAG1, STEEP1 (CXORF56), STXBP1, SYN1, SYNGAP1, SYNJ1, SYP, SZT2, TAF1, TAF13, TAF2, TANC2, TBC1D24, TBCK, TBL1XR1, TBR1, TBX1, TCF20, TCF4, TECR, THOC2, TIMM8A, TLK2, TNIK, TRAF7, TRAK1, TRAPPC4, TRAPPC6B, TRAPPC9, TRIO, TRIP12, TRMT1, TSC1, TSC2, TSPAN7, TTI2, TUSC3, UBA5, UBE2A, UBE3A, UBR1, UGDH, UGP2, UPF3B, USP27X, USP9X, VAMP2, VARS1 (VARS), VPS13B, WAC, WARS2, WASF1, WASHC4 (KIAA1033), WDFY3, WDR26, WDR45, WDR45B, WNT5A, WWOX, YWHAG, ZBTB11, ZBTB18, ZBTB20, ZC3H14, ZC4H2, ZDHHC9, ZEB2, ZMYND11, ZNF292, ZNF462, ZNF711, ZSWIM6, TMLHE
Результаты исследования могут помочь установить причину задержки психоречевого развития/аутизма, в некоторых случаях подобрать или скорректировать лечение, и оценить возможный риск наследования заболевания для других родственников (братьев/сестер, потомства).